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Autori: Maver Ales

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Naslov Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case series (Article)
Autori Petrovic Pajic Sanja MI  Jarc-Vidmar Martina  Fakin Ana  Sustar-Habjan Maja  Brecelj Jelka  Volk Marija  Maver Ales  Peterlin Borut  Hawlina Marko 
Info FRONTIERS IN NEUROLOGY, (2022), vol. 13 br. , str. -
Projekat Slovenian Research Agency; [P3-0333]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy (Article)
Autori Petrovic Pajic Sanja MI  Lapajne Luka  Vratanar Bor  Fakin Ana  Jarc-Vidmar Martina  Sustar-Habjan Maja  Volk Marija  Maver Ales  Peterlin Borut  Hawlina Marko 
Info JOURNAL OF CLINICAL MEDICINE, (2022), vol. 11 br. 20, str. -
Projekat Slovenian Research Agency [P3-0333]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Clinical Exome Sequencing in Serbian Patients with Movement Disorders - Single Centre Experience (Article)
Autori Brankovic Marija  Dragasevic Natasa T  Dobricic Valerija S  Maver Ales  Bergant Gaber  Petrovic Igor N  Peric Stojan Z  Marjanovic Ana  Jankovic Milena Z  Jancic Jasna B  Novakovic Ivana V  Peterlin Borut  Svetel Marina V  Kostic Vladimir K 
Info GENETIKA-BELGRADE, (2022), vol. 54 br. 1, str. 395-409
Projekat Serbian Ministry of education, science, and technological development [175090, 175091]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Relative preservation of central retinal layers in LHON in comparison to other optic neuropathies (Meeting Abstract)
Autori Petrovic Pajic Sanja MI  Lapajne Luka  Fakin Ana  Jarc-Vidmar Martina  Glavac Damjan  Volk Marija  Maver Ales  Vratanar Bor  Stare Janez  Peterlin Borut  Hawlina Marko 
Info INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, (2022), vol. 63 br. 7, str. -
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the Balkans (Meeting Abstract)
Autori Maver Ales  Kovanda Anja  Bergant Gaber  Teran Natasa  Vrecar Irena  Brankovic Marija  Jankovic Milena Z  Svetel Marina V  Kostic Vladimir S  Novakovic Ivana V  Racki Valentino  Vuletic Vladimira  Peterlin Borut 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 292-292
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov De novo mutations in idiopathic male infertility-A pilot study (Article)
Autori Hodzic Alenka  Maver Ales  Plaseska-Karanfilska Dijana  Ristanovic Momcilo  Noveski Predrag  Zorn Branko  Terzic Marija  Kunej Tanja  Peterlin Borut 
Info ANDROLOGY, (2021), vol. 9 br. 1, str. 212-220
Projekat Slovenian Research Agency - Slovenia [P3-0326]; Ministry of Education and Science of R. Macedonia [17-4523/1]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Skeletal dysplasia in the era of genomic testing: first experience of a single genetic outpatient clinic from Serbia (Meeting Abstract)
Autori Mijovic Marija  Ruml-Stojanovic Jelena  Miletic Aleksandra  Bosankic Brankica  Janeski Hristina  Peterlin Borut  Maver Ales  Cuturilo Goran 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2020), vol. 28 br. SUPPL 1, Suppl. 1, str. 831-831
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Phenotype and genotype spectrum of patients with a bilateral optic neuropathy in population of Slovenia (Meeting Abstract)
Autori Petrovic Pajic Sanja MI  Jarc-Vidmar Martina  Fakin Ana  Sustar Maja  Brecelj Jelka  Lapajne Luka  Volk Marija  Maver Ales  Peterlin Borut  Hawlina Marko 
Info INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, (2020), vol. 61 br. 7, str. -
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability (Article)
Autori Ruml-Stojanovic Jelena  Miletic Aleksandra  Peterlin Borut  Maver Ales  Mijovic Marija  Borlja Nikola  Dimitrijevic Brankica  Soldatovic Ivan A  Cuturilo Goran 
Info JOURNAL OF CHILD NEUROLOGY, (2020), vol. 35 br. 2, str. 116-131
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Clinical Next Generation Sequencing Reveals An H3f3a Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation (Article)
Autori Maver Ales  Cuturilo Goran  Stojanovic Ruml J  Peterlin Borut 
Info BALKAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 22 br. 2, str. 65-68
Projekat Slovenian Research Agency - Slovenia [J3-8205, J3-9280, P3-0326]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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